Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
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DOI：
10.1212/01.wnl.0000150588.75281.58
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发表时间：
2005-02-08
期刊：
影响因子：
9.9
通讯作者：
Hirano, M
中科院分区：
文献类型：
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作者：
Quinzii, CM;Kattah, AG;Hirano, M
原发性肌肉辅酶 Q10 (CoQ10) 缺乏症是一种明显的常染色体隐性遗传疾病，具有异质性临床表现。患有这些疾病的患者通过补充 CoQ10 可以得到改善。在一个患有共济失调和 CoQ10 缺陷的家系中，对全基因组微卫星标记的分析表明该疾病与染色体 9p13 存在关联，并鉴定出导致共济失调动眼神经失用症 (AOA1 [MIM606350]) 的 aprataxin 基因 ( APTX ) 突变。作者的观察表明 CoQ10 缺乏可能导致 AOA1 的发病机制。
Primary muscle coenzyme Q10 (CoQ10) deficiency is an apparently autosomal recessive condition with heterogeneous clinical presentations. Patients with these disorders improve with CoQ10 supplementation. In a family with ataxia and CoQ10 deficiency, analysis of genome-wide microsatellite markers suggested linkage of the disease to chromosome 9p13 and led to identification of an aprataxin gene ( APTX) mutation that causes ataxia oculomotor apraxia (AOA1 [MIM606350]). The authors' observations indicate that CoQ10 deficiency may contribute to the pathogenesis of AOA1.